Search

Author/Creator Gates, Ryan

1. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Issue 10 (14th September 2021)

Authors:
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Schrier Vergano, Samantha A.; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletc...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 10(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Issue 11 (5th July 2022)

Authors:
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Debor...
Other Names:
author non-byline.; Bamshad Michael J author non-byline.; Nickerson Deborah A author non-byline.; Anderson Peter author non-byline.; Bacus Tamara J author non-byline.; Blue Elizabeth E author non-byline.; Brower Katherine author non-byline.; Buckingham Kati J author non-byline.; Chong Jessica X ...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1104
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Variable clinical severity in TANGO2 deficiency: Case series and literature review. Issue 2 (19th October 2021)

Authors:
Schymick, Jennifer; Leahy, Peter; Cowan, Tina; Ruzhnikov, Maura R. Z.; Gates, Ryan; Fernandez, Liliana; Pramanik, Gopal; Yarlagadda, Vamsi; Wheeler, Matthew; Bernstein, Jonathan A.; Enns, Gregory M.; Lee, Chung
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
473
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗